Dermatológia pre prax 4/2022

News in genetic diagnosis of malignant melanoma

Malignant melanoma is one of the most widespread type of malignant oncological diseases worldwide. It is a complex heterogenous cancer within the clinical, dermatological and histological disease, but also the genomic profile and risk factors. Despite significant progress in understanding of the biological processes and genetics of malignant melanoma, it represents a worldwide problem, mainly because of the high incidence and insufficient treatment of its advanced stages. Almost every tumor release DNA, which can be isolated from peripheral blood or other body fluids. Circulating tumor DNA (ctDNA) provides a sufficiently accurate reflection of the tumor genomic profile, which makes it a suitablediagnostic biomarker. The minimal invasiveness of material collection for analysis enables its repetition. It significantly increases the informative value of examination and possibility of monitoring heterogenity and dynamics of tumor mass. Studies focused on detection of p.V600E mutation in BRAF gene as a suitable marker that it occurs mainly in the ctDNA in patients in the III-IV advanced stage of melanoma. Occurence of mutation in earlier stages of disease is still unclear.

Keywords: malignant melanoma, genetic testing, ctDNA